Canonical Allele Identifier: CA2586287888
Gene: FTL HGNC NCBI

Linked Data

gnomAD v4: 19-48965238-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48965238A>C , CM000681.2:g.48965238A>C GRCh38
NC_000019.9:g.49468495A>C , CM000681.1:g.49468495A>C GRCh37
NC_000019.8:g.54160307A>C NCBI36
NG_008152.1:g.4930A>C

Transcript Alleles

HGVS Amino-acid Change
XM_024451447.1:c.241A>C XP_024307215.1:p.Ser81Arg
Search 100 bp 5'
Search 100 bp 3'